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Generalized epilepsy with febrile seizures plus

Mutations in O generalized epilepsy with febrile seizures plus syndrome... [Pg.592]

Generalized epilepsy with febrile seizures plus (GEFS+), severe myoclonic epilepsy of infancy (SMEI)... [Pg.630]

Spampanato J, Escayg A, Meisler MH, Goldin AL. Generalized epilepsy with febrile seizures plus type 2 mutation W1204R alters voltage-dependent gating of Na(v)l.l sodium channels. Neuroscience 2003 116 37-48. [Pg.808]

E, Ragsdale DS, Dunn RJ, Rouleau GA. Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS). Epilepsy Res. 2003 53 107-117. [Pg.808]

Baulac S, Gourfinkel-An I, Picard F et al 1999 A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet 65 1078-1085... [Pg.81]

Generalized epilepsy with febrile seizures plus (GEFS + 1 and 2), syndromes classified by the presence of multiple seizure types both in the affected individual and within the extended disease pedigree, arise from point mutations that change function of the fil and al subunits, respectively. Although similarly classified, the... [Pg.110]

Scheffer IE, Berkovic SF (1997) Generalized epilepsy with febrile seizure plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 120 479 90... [Pg.1458]

See other pages where Generalized epilepsy with febrile seizures plus is mentioned: [Pg.340]    [Pg.340]    [Pg.592]    [Pg.126]    [Pg.804]    [Pg.74]    [Pg.81]    [Pg.124]    [Pg.131]    [Pg.74]    [Pg.81]    [Pg.124]    [Pg.131]    [Pg.255]    [Pg.262]    [Pg.112]   


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Epilepsies

Febrile

Generalized epilepsy

Generalized epilepsy with febrile seizures plus type 2

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